Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTTG1IP_chr21_44844598_44878690	44863291	G G	GCCACGGC others(301): Show GCCACGGCCTCAGCAGCAGACACACAGCCCACCACGGCCTCAGGAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCACAGAGACACACAGCCCACCACGGCCTCAGCAGCAGAGACACA GCCCACCACGGCCTCAGCAGCACAGAGACACACAGCCCGCCACGGCCTCA GCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCAC CACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGA CACAGCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	444	0.0023	308	c.169 others(325): Show c.169-2021_169-2020insTGGGCTGTGTCTCTGCTGCTGAGGCCGT GGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTG CTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGCGGGCTGT GTGTCTCTGTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGG CCGTGGTGGGCTGTGTGTCTCTGTGCTGCTGAGGCCGTGGTGGGCTGTGT CTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTCCTGAGGCCGTGG TGGGCTGTGTGTCTGCTGCTGAGGCCGTGG	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
PYM1_chr12_55896413_55932894	55898116	C C	CAAAAAAA others(301): Show CAAAAAAAAAAAAAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ACTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCTCCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 NA20300.hp2 HG04228.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0078 a0001c0001t0008g0079 a0001c0001t0008g0078 a0001c0001t0008g0079	2	344	0.0058	308	c.37 others(319): Show c.3755_*3756insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAGTTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCACTTTTTTTTTTTTTT	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding		3296		chr12	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(301): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACCGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCGAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCACCCGCCCCAGCCTCATCGCGC CACACCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0030 a0004c0009t0030	a0004c0009t0030g0329 a0004c0009t0030g0329	1	392	0.0026	308	c.329 others(325): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGTGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTCGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCGGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(301): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGC CACACCCCA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19081.hp2 NA18954.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0021 a0001c0002t0020 a0001c0002t0021	a0001c0002t0020g0175 a0001c0002t0021g0176 a0001c0002t0020g0175 a0001c0002t0021g0176	2	392	0.0051	308	c.329 others(325): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(301): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACGAGGCCCCCCAGCTCCACTGCACCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCACCCGCCCCAGCCTCATCGCGC CACACCCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0209 a0001c0001t0031g0209	1	392	0.0026	308	c.329 others(325): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGTGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGTGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234749	A A	AAGGCCCC others(301): Show AAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCC CAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGC CCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCT CCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCAC ACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACT GCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTG GTCTCCACG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0049 a0001c0002t0005g0049	1	392	0.0026	308	c.329 others(325): Show c.329-7876_329-7875insCGTGGAGACCAGCCTTGCTCCCAAGCTG GGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTC GTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGG GCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAA GCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGG CCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGC TGGGGCGGGCGCAGTGGAGCTGGGGGGCCT	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234847	G G	GCCCGCCC others(301): Show GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTGCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGC TGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCG CGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGC TCCACTGCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0295 a0001c0001t0023g0295	1	392	0.0026	308	c.329 others(325): Show c.329-7974_329-7973insTGCAGTGGAGCTGGGGGGCCTCGTGGAG ACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGC GCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGG GTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGT GCAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGC GGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGC TGGGGTGTGGCGCGATGAGGCTGGGGCGGG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(301): Show TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGA GCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTC CCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCC CAGGCCCTC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	295	0.0034	308	c.126 others(327): Show c.1265+3382_1265+3383insTCCAGAGCCCTCCCCGGGAGACCCGA GGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTC CAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGC CGCCCAGGCCCTCCCCGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(301): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC CGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGA CCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGC CCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGG CCGCCCAGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	295	0.0034	308	c.126 others(327): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCC GAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(301): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	340	0.0029	308	c.24- others(323): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGTA TTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTG ATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(301): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01928.hp1 others(3): Show HG00735.hp2 HG01099.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0197 others(3): Show a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0269	6	340	0.0177	308	c.24- others(323): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGTA TTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(301): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(91): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19006.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(87): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0003t0001g0150 a0001c0003t0001g0159	94	340	0.2765	308	c.24- others(323): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGTA TTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(301): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTATTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0149 a0001c0001t0001g0152	2	340	0.0059	308	c.24- others(323): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA ATAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGTA TTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RALYL_chr8_84178274_84926844	84525026	A A	ACGGCCTC others(301): Show ACGGCCTCAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp1 NA18522.hp1 HG02572.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0043 a0001c0001t0002g0047 a0001c0001t0005g0020 a0001c0001t0001g0043 a0001c0001t0002g0047 a0001c0001t0005g0020	3	82	0.0366	308	c.-23 others(325): Show c.-23-4260_-23-4259insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCAATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84525029	G G	GCCTCAAT others(301): Show GCCTCAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02602.hp2 HG02683.hp1 others(8): Show HG01167.hp2 HG02602.hp2 HG02683.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG04115.hp2 NA18906.hp1 NA18999.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0054 others(8): Show a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0002g0052 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0011g0015 a0001c0001t0012g0018	11	82	0.1342	308	c.-23 others(325): Show c.-23-4260_-23-4259insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGACCTCAATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RASA3_chr13_113972783_114137623	114044122	G G	GCCCCCCC others(301): Show GCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGC TGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCAC TCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCT CACTCGCTGAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTC ACTCGCTGAGCCCCCCCGCCTCACTCGCTGAGCTCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCAC TCGCTGAGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0063 a0001c0007t0002g0063	1	67	0.0149	308	c.278 others(325): Show c.278-3029_278-3028insGCTCAGCGAGTGAGGCGGGGCGGGGGGG CTCAGCGAGTGAGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGAGC TCAGCGAGTGAGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTC AGCGAGTGAGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTC AGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGG CTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGCTCAGCGAGTGAGGCGGGGCGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044175	G G	GCCCCCCC others(301): Show GCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCAC TCGCTGAGCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCC GCCTCACTCGCTGAGCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCC CGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCC CCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTG AGCCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCCCCGCCTCACTC GCTGAGCCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	67	0.0149	308	c.278 others(325): Show c.278-3082_278-3081insGGGCTCAGCGAGTGAGGCGGGGGGGGGG GGCTCAGCGAGTGAGGCGGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGT GAGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCG AGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGAGC TCAGCGAGTGAGGCGGGGCGGGGGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(301): Show ACCTCAGGTGATCTACCTGCCTCACCCCTCCCAAAATGCTGGGATTACAG ACGTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTGAG ACGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCC TCCCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGTT TGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGG AGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0069 a0002c0003t0002g0069	1	377	0.0027	308	c.-18 others(319): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCAG CCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGCT TCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGGAGGG GTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(301): Show ACCTCAGGTGATCTACCTGCCTCACCCTCCCAAAAATGCTGGGATTACAG ACGTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTGAG ACGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCC TCCCGAGTTGCTGGGATTACAGGTGCCTGCCACCAAGCCCAGGTAATGTT TGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGG AGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	377	0.0027	308	c.-18 others(319): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCAGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCAG CCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGCT TCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTTGGGAGG GTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(301): Show ACCTCAGGTGATCTACCTGCCTCACCCTCCCAAAATGCTGGGATTACAGA CGTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTGAGA CGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCC TCCCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGTT TGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGG AGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0199 a0001c0001t0016g0199	1	377	0.0027	308	c.-18 others(319): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTTGCGCTCCA GCCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGC TTCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGGAGG GTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(301): Show ACCTCAGGTGATCTACCTGCCTCACCCTCCCAAAATGCTGGGATTACAGA CGTGAGCCACCGTGCCACACCAGAAGCCGTTTGTTGTTGTTGTTTTTGAG ACGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGG CTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCC TCCCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGTT TGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGG AGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0073 a0002c0003t0002g0073	1	377	0.0027	308	c.-18 others(319): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCAG CCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAAACGGC TTCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGGAGG GTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(301): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTG TACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	308	c.-23 others(319): Show c.-2310_-2309insGTATGTGTACACATACATATGTATGTGTACACAT ACATACGTATGTGTACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACATATGTATGTATACACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGCATAC ACATACATATGTATGCATACACATACATATGTATGCATACACATACATAT GTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(301): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATATGTATGTATGTGTACACATACGTATG TATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	308	c.-23 others(319): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RIMS1_chr6_71881550_72408145	72043662	T T	TGCTAATG others(301): Show TGCTAATGTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCA GTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0052 a0001c0003t0004g0052	1	140	0.0071	308	c.246 others(327): Show c.246-53273_246-53272insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTG CGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGGCTAATGTACTATT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIN3_chr14_92508781_92693994	92640736	G G	GTTTGCTG others(301): Show GTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGT GCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACT GTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGA CTGTGTGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCT GACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGC CTGACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGC CTGACTGCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18945.hp1 NA18964.hp1 others(2): Show HG02129.hp1 NA18945.hp1 NA18964.hp1 NA19012.hp2 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0084 a0003c0003t0001g0219 others(2): Show a0003c0003t0001g0067 a0003c0003t0001g0084 a0003c0003t0001g0219 a0003c0003t0001g0221 a0003c0003t0001g0313	5	334	0.0150	308	c.441 others(323): Show c.441-454_441-453insTGCGTTTGCTGGGAGATGCCTGACTGTGTG TTCATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTG TGTTCATCGGGGGCTGCCTGACTGTGTGTTTGCTGGGAGATGCCTGACTG TGTGTTCATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGAC TGTGTGTTCATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGAC TGTGTGTTCGTCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGAC TGTGTGTTCATCGGGGGCTGCCTGACTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20508708	T T	TAAGAAAG others(301): Show TAAGAAAGAATCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0178 a0002c0002t0047g0178	1	396	0.0025	308	c.-5- others(323): Show c.-5-1744_-5-1743insTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCC ACCGCGCCCGGCCAAGAAAGAATCTTTT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF17_chr13_24759169_24884921	24881896	C C	CTATATAG others(301): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	426	0.0024	308	c.21 others(319): Show c.2170_*2171insTATATAGATATATAATCTATATAGATATATAATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1976		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA20905.hp2 NA18984.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0083 a0001c0002t0001g0065 a0001c0002t0001g0083	2	426	0.0047	308	c.22 others(319): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	426	0.0024	308	c.22 others(319): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA TATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	426	0.0024	308	c.22 others(319): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA TATAGATATATAGATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	426	0.0024	308	c.22 others(319): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA TATAGATATATAGATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF180_chr5_64160843_64377869	64362908	T T	TCCTTTGC others(301): Show TCCTTTGCCCACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCTGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	250	0.0040	308	c.158 others(327): Show c.1580-6691_1580-6690insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCTGGCCCTTTGCCCACTTTTT	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROBO2_chr3_77035099_77654964	77291229	A A	AAGTAAAA others(301): Show AAGTAAAATTGATGGTTAAATGGGTAAGCTGAGGCTAGATCACTAAACAC ATAAAGTAAAATTGACAGTTAAACGGGTAAGCTGAGGCTAGATCACCCAG ACATAAAGTAAAATTGAAGATTAAACGGGAAGTTGAGGCTAGAACAGTAA AGGCATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGATCAC CCCAGACATAAAGTAAAATTGATGGATAAACGGATAAGCTGAGGCTAGAT CACCCCAGACGTGAAGTAAAATTGACGGCTAAAAGTGTAAGCTGAGACTA GATCACCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0011 a0001c0001t0037g0011	1	160	0.0063	308	c.389 others(329): Show c.389-186183_389-186182insTAAAATTGATGGTTAAATGGGTAA GCTGAGGCTAGATCACTAAACACATAAAGTAAAATTGACAGTTAAACGGG TAAGCTGAGGCTAGATCACCCAGACATAAAGTAAAATTGAAGATTAAACG GGAAGTTGAGGCTAGAACAGTAAAGGCATAAAGTAAAATTGATGGTTAAA CGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGAT AAACGGATAAGCTGAGGCTAGATCACCCCAGACGTGAAGTAAAATTGACG GCTAAAAGTGTAAGCTGAGACTAGATCACCCCAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPA3_chr7_7631518_7723607	7679474	T T	TTATATAT others(301): Show TTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	308	0.0033	308	c.-75 others(327): Show c.-758+6355_-758+6356insTAAATATATATTTATCTATAAACTAA ATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTA TCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAACATGTATCTATAAACTAAATATATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	242609	C C	CCTTCCTC others(301): Show CCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGAT TACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATT GACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCT ATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTC TATTGACTA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0044 a0001c0008t0001g0044	1	133	0.0075	308	c.613 others(325): Show c.613+4501_613+4502insTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAAT CAATAGAGGAAGGGTAATCAATAGAGGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272984	C C	CGACATCA others(301): Show CGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAG CGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGA CCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCGACATCAGG AAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGAC ATCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAG GGCGACATCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCC AGCGAGGGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	133	0.0075	308	c.438 others(325): Show c.438+8783_438+8784insACCCTCGCTGGGGTCTCTCCCTGACGTC ACCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTCTCCCT GACGTCACCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCT CTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTG GGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGACGTCACCC TCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCGCCCTCGCTGGGGTCTCTTCCTGATGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273015	C C	CGTCAGGG others(301): Show CGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAG AGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTC AGGGAGAGACCCCAGCAAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGC GACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGC AAGGGTGAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19005.hp2 NA18995.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0026 a0001c0001t0002 a0001c0004t0026	a0001c0001t0002g0029 a0001c0004t0026g0013 a0001c0001t0002g0029 a0001c0004t0026g0013	2	133	0.0150	308	c.438 others(325): Show c.438+8752_438+8753insATCACCCTTGCTGGGGTCTCTCCCTGAC GTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCAC CCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGG TCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCG CTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCG CCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTG ACGTCGCCCTCGCTGGGGTCTCTCCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273287	G G	GAGGGCGA others(301): Show GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGG AGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGATG TCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCA GCAAGGGTGACGTCGGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	133	0.0075	308	c.438 others(325): Show c.438+8480_438+8481insTGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCCGACGTCACCCTTGCTGGGGTCTCACCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCC TGACATCACCCTTGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTC TCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCT GGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCC CTCGCTGGGGTCTCTCCCTGACGTCGCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273519	C C	CGTCAGGA others(301): Show CGTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GGGCGACGTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGCAACATC AGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGT GACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGC AAGGGTGAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	133	0.0075	308	c.438 others(325): Show c.438+8248_438+8249insATCACCCTTGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTC CCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTTGCCCTCGCTGGGG TCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCG CTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCG CCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTG ACGTCGCCCTCGCTGGGGTCTCTTCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273611	A A	AGAGACCC others(301): Show AGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGG GTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCA GCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAG GGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGA CTTCAGGGT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	133	0.0075	308	c.438 others(325): Show c.438+8156_438+8157insACCCTGAAGTCACCCTTGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGG GGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGT CACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCTCCCTGACATCACCCTTGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TTGAGAAA others(301): Show TTGAGAAAGAGTCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0351 a0001c0001t0025g0351	1	366	0.0027	308	c.-30 others(327): Show c.-303+5471_-303+5472insTGAGAAAGAGTCTCAGGCCGGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATTGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3			chr19	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TTGAGAAA others(301): Show TTGAGAAAGAGTCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18989.hp1 HG02258.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0326 a0001c0001t0006g0320 a0001c0001t0001g0326 a0001c0001t0006g0320	2	366	0.0055	308	c.-30 others(327): Show c.-303+5471_-303+5472insTGAGAAAGAGTCTCAGGCCGGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATTGAGACCATCCCGGCTAAAACGGTGAAACCCTGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3			chr19	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(301): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATATGTATATAAACACACATACGTGTA TATGTTTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19088.hp1 NA18950.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0237 a0001c0001t0002g0239	2	276	0.0073	308	c.494 others(327): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATATGTATA TAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(301): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02559.hp2 HG00323.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0255 a0001c0001t0002g0234 a0001c0001t0002g0255	2	276	0.0073	308	c.494 others(327): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTTTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(301): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0025 a0001c0001t0007g0276 a0001c0001t0006g0025 a0001c0001t0007g0276	2	276	0.0073	308	c.494 others(327): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645944	A A	ACATATAT others(301): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATATGT GTATATATACATATATACACATATATGTATATACACATATATGTATATAT ACATATATATACATATATGTGTATATATACATATATACACATATATGTAT ATACACATATATGTATATATACATATACGTATATATACATATATGTATAT ATACATATACGTATATATACATATATGTATATATACATATATGTATATAT ACATATATGTATATATACACATATGTATATATACATATGTGTATATATAC ATATATATG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0093 a0001c0002t0005g0103 a0001c0002t0005g0093 a0001c0002t0005g0103	2	190	0.0105	308	c.731 others(327): Show c.731+49078_731+49079insCATATATATGTATATATACACATATG TATATATACATATGTGTATATATACATATATGTATATATACATATATGTA TATATACATATATGTATATATACGTATATGTATATATACATATATGTATA TATACGTATATGTATATATACATATATGTGTATATACATATATGTGTATA TATGTATATATACACATATATGTATATATATGTATATATACATATATGTG TATATACATATATGTGTATATATGTATATATACACATATATATATATACA TATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(301): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ATACATATATGTATATATACATATACGTATATATACACATATGTATATAT ACATATACGTATATATACATATATGTATATATACATATACGTATATATAC ATATATGTATATATACGTATATGTATATATACATATGTGTATATATACAT ATATATGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0148 a0001c0001t0007g0148	1	190	0.0053	308	c.731 others(327): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATACGTATATATACATATATGTATATATACGTATATG TATATATACATATATGTATATATACGTATATGTATATATACATATGTGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATACA TATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(301): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ATACATATATGTATATATACATATACGTATATATACATATATGTATATAT ACATATACGTATATATACATATATGTATATATACATATACGTATATATAC ATATATGTATATATACATATATGTATATATACATATGTGTATATATACAT ATATATGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	190	0.0053	308	c.731 others(327): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATATGTATATATACATATATGTATATATACGTATATG TATATATACATATATGTATATATACGTATATGTATATATACATATATGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATACA TATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(301): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACACATATATGTATATACACATATATGTATATATAC ATATATATACATATATGTGTATATATACATATATACACATATATGTATAT ATACATATATGTATATATACATATACGTATATATACATATATGTATATAT ACATATACGTATATATACATATATGTATATATACATATATGTATATATAC ATATATGTATATATACACATATGTATATATACATATGTGTATATATACAT ATATATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG01981.hp2 HG00639.hp2 HG01175.hp1 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0096 a0001c0003t0001g0080 a0001c0003t0001g0098 a0001c0002t0001g0096 a0001c0003t0001g0080 a0001c0003t0001g0098	3	190	0.0158	308	c.731 others(327): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATGTGTATATATACATATATGTATATATACATATATG TATATATACATATATGTATATATACGTATATGTATATATACATATATGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATACA TATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(301): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18906.hp2 NA18977.hp2 HG02735.hp2 NA18906.hp2 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0102 a0001c0001t0001g0122 a0002c0002t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0122 a0002c0002t0001g0099	3	210	0.0143	308	c.899 others(323): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 10000 hits)